Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations

Testing the partner of a BRCA2 carrier must always be discussed. If both members of the couple are BRCA2 carriers, they should be informed about the high risks of polymalformative syndromes.

Detalles Bibliográficos
Autores principales: Anquetil, Aude, Khung Savatovsky, Suonavy, Gavard, Laurent, Bazin, Anne, Guimiot, Fabien, Dubourg, Christele, Mandelbrot, Laurent, Picone, Olivier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457408/
https://www.ncbi.nlm.nih.gov/pubmed/34584710
http://dx.doi.org/10.1002/ccr3.4838
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author Anquetil, Aude
Khung Savatovsky, Suonavy
Gavard, Laurent
Bazin, Anne
Guimiot, Fabien
Dubourg, Christele
Mandelbrot, Laurent
Picone, Olivier
author_facet Anquetil, Aude
Khung Savatovsky, Suonavy
Gavard, Laurent
Bazin, Anne
Guimiot, Fabien
Dubourg, Christele
Mandelbrot, Laurent
Picone, Olivier
author_sort Anquetil, Aude
collection PubMed
description Testing the partner of a BRCA2 carrier must always be discussed. If both members of the couple are BRCA2 carriers, they should be informed about the high risks of polymalformative syndromes.
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spelling pubmed-84574082021-09-27 Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations Anquetil, Aude Khung Savatovsky, Suonavy Gavard, Laurent Bazin, Anne Guimiot, Fabien Dubourg, Christele Mandelbrot, Laurent Picone, Olivier Clin Case Rep Case Reports Testing the partner of a BRCA2 carrier must always be discussed. If both members of the couple are BRCA2 carriers, they should be informed about the high risks of polymalformative syndromes. John Wiley and Sons Inc. 2021-09-22 /pmc/articles/PMC8457408/ /pubmed/34584710 http://dx.doi.org/10.1002/ccr3.4838 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Anquetil, Aude
Khung Savatovsky, Suonavy
Gavard, Laurent
Bazin, Anne
Guimiot, Fabien
Dubourg, Christele
Mandelbrot, Laurent
Picone, Olivier
Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations
title Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations
title_full Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations
title_fullStr Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations
title_full_unstemmed Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations
title_short Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations
title_sort case report: antenatal diagnostic of a polymalformative syndrome due to biallelic brca2 mutations
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457408/
https://www.ncbi.nlm.nih.gov/pubmed/34584710
http://dx.doi.org/10.1002/ccr3.4838
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